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https://doi.org/10.14300/mnnc.2020.15039

Determination of reference values for the method of intestinal current measurement in the Russian Federation

[Cystic fibrosis]
Julia Leonidovna Melyanovskaya; Elena Ivanovna Kondratieva; Sergey Ivanovich Kutsev;

The aim of the study was to determine the reference values of the method for determining the difference in intestinal potentials in 10 healthy volunteers and 5 patients with cystic fibrosis with a «severe» genotype and absolute pancreatic insufficiency. At stimulation with forskolin, the change in short circuit current (ΔISC) in the control group was 25.78 ± 4.41 µA/cm², in patients with cystic fibrosis, the ΔISC values did not exceed 2.97 ± 0.61 µA/cm². The developed reference values of the method for determining the difference in intestinal potentials can be used in clinical practice to assess the clinical significance of new rare genetic variants of cystic fibrosis or at borderline values of a sweat test.

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Keywords: cystic fibrosis, genetic variants, intestinal current measurement, CFTR gene, CFTR protein